A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964710



Internal ID20036653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235187184..235191394hg38UCSC Ensembl
chr1:235350499..235354709hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg384211
hg194211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4063419
Supporting Variants
Samples
Known GenesARID4B, MIR4753
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15964710
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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